R50L (p.Arg50Leu) variant of VDR (Vitamin D3 receptor)
R50L (p.Arg50Leu) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in VDDR2A. The record also includes structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- ExAC rs121909794
- TOPMed rs121909794
- gnomAD rs121909794
- Pathogenic
- in VDDR2A
- Missense
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Structural context available